Hi, KayoKelly. Welcome to the forum! Well, you've really been through the medical wringer.
Have you ever looked at dominant and recessive diagrams?
Even if something is recessive, it does not mean that everyone who has the gene has severe symptoms. If you have 4 siblings with the gene, for example, two might show no symptoms, one might have mild ones and another could be severe!
Are both of your parents of the same ancestry? Sometimes these CMS genes run in families of the same descent. Northern Europeans tend to get CMS's more often, as do some of Middle Eastern descent.
This site would probably help you.
http://neuromuscular.wustl.edu/synmg.html
I cannot believe that they had YOU choose between two tests! OMG, how unscientific is that? Why don't they just blindfold you and have you stick the test tail on the neurologist donkey?
No offense to your neuro but that is just stupid. Money was obviously the guiding force of that conversation.
Have they clearly defined that you get worse with activity? Or do you get better? Or temporarily better, like LEMS patients do.
Have they done both the ACh and MuSK tests? The LRP4 test isn't available yet but it's one more antibody they've discovered.
Do not go near any organophosphates! They make MG/LEMS/CMS worse. They cause too much acetylcholine to build up and can cause neuropathy and, in some cases, death depending upon the amount or time of exposure.
Milk of Magnesia is packed full of magnesium. Too much of that and MG will get worse. A CMS can too. Were you given magnesium during any of your births?
Do you have odor intolerance just to manmade chemicals or to natural things like flowers?
Allergies are always a possibility too.
Some people with CMS DO reach normal milestones as a baby!!! Where does all of this algorithmic prejudice come from?!! Were you "clumsy" when you were young? Sometimes signs are more subtle and can easily be passed off as clumsiness of a baby or awkwardness of a child.
What do your parents remember of your childhood?
If you can, keep a journal of your childhood and adulthood symptoms. Think back to whether or not you were as physically active as other kids.
Do you have double vision? In MG, DV is binocular and when you close one eye, it goes away. Have you seen a neuro-ophthalmologist?
I had to laugh about the legs spreading after birth. Give me a break. I know childbirth is difficult but if someone has normal muscle strength, it won't do that to them! It definitely doesn't keep you from rolling over in bed. And changes in hormones can typically make MG worse or better. Where's the scientific logic here? Your docs need to stop seeing you as a woman and start seeing you as a human being who is very sick.
You do know that ephedrine can be harmful, right? Using it on a long-term basis should always be followed by a primary doctor. Have you had an ECG? The same with Albuterol. There are other forms of inhalers, which an allergist or primary doctor can help you with too.
Has anyone thought to do a Tensilon test?
Have you thought about being evaluated by a pulmonologist? They can do specific breathing tests to gauge if you are having trouble breathing due to a neuromuscular cause. MIP (maximum inspiratory pressure) and MEP (maximum expiratory pressure) can show if you are having trouble breathing in or out or both.
I'm sorry you've been through so much. It sounds to me like you've had whatever disease this is for a long time. You do need someone to define if it is MG or CMS. Or both. Yeah, you can have both. Why? Because you wouldn't want to take any immunosuppressant drugs or IVIG for CMS because it's not an autoimmune disease.
I've had MG my entire life. I was diagnosed at age 41 by a neuro-ophthalmolost and at age 42 by an MG expert/MDA Director. I didn't realize I had ptosis until I was 41. I thought droopy was just my normal. I was misdiagnosed with lazy eye at age ten. I always adapted to anything physical and could not do what the other kids could. I was lucky I didn't get much worse before getting diagnosed and treated.
BTW, there are less toxic hair colorings such as that at JUUT or Aveda salons. And some hair colorings have gluten in them. Have you been tested for celiac disease?
If you get worse, where you can move, breathe or swallow well, you need to dial 911. If you have CMS or MG, that's an emergency. Do not get overheated! That can make MG worse.
I hope you will get someone to help you who won't "ration" your health care! You need to know what this is and soon.
Take care of yourself. At the very least, make sure those around you realize how serious this is. When you need to rest, you need to rest. If you don't, CMS/MG will only get worse.
Annie